title: Dynamin-2 in nervous system disorders.
abstract: Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle recycling, post-synaptic receptor internalization, neurosecretion, and neuronal process extension. Some of these functions are shared with the other two dynamin isoforms. However, the involvement of dynamin-2 in neurological illnesses points to a critical function of this isoform in the nervous system. In this regard, mutations in the dynamin-2 gene results in two congenital neuromuscular disorders. One of them, Charcot-Marie-Tooth disease, affects myelination and peripheral nerve conduction, whereas the other, Centronuclear Myopathy, is characterized by a progressive and generalized atrophy of skeletal muscles, yet it is also associated with abnormalities in the nervous system. Furthermore, single nucleotide polymorphisms located in the dynamin-2 gene have been associated with sporadic Alzheimer's disease. In the present review, we discuss the pathogenic mechanisms implicated in these neurological disorders.
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Arlek M
authors.initials: AM
authors.lastname: González-Jamett
authors.forename: Valentina
authors.initials: V
authors.lastname: Haro-Acuña
authors.forename: Fanny
authors.initials: F
authors.lastname: Momboisse
authors.forename: Pablo
authors.initials: P
authors.lastname: Caviedes
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Bevilacqua
authors.forename: Ana M
authors.initials: AM
authors.lastname: Cárdenas
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism; D000818:Animals; D001921:Brain / Q000002:abnormalities; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000378:metabolism; D034285:Dynamin II / Q000235:genetics / Q000378:metabolism*; D004705:Endocytosis; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009422:Nervous System Diseases / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000378:metabolism; D013572:Synaptic Vesicles / Q000378:metabolism
chemical_list: D020033:Protein Isoforms; D034285:Dynamin II
keywords: Alzheimer's disease; Charcot-Marie-Tooth neuropathy; centronuclear myopathy; cytoskeleton; dynamin-2; vesicles trafficking